Unit Checkpoint
Unit Summary
This checkpoint assesses your understanding of the entire Genetics unit. Review these key concepts:
- Mendelian Genetics: Laws of segregation and independent assortment, Punnett squares, genotypes and phenotypes
- DNA Replication: Semi-conservative replication, enzymes involved, leading and lagging strands
- Inheritance Patterns: Dominant/recessive, codominance, incomplete dominance, sex-linked traits
- Pedigree Analysis: Determining inheritance patterns from family trees
Unit Assessment
Complete this 10-question checkpoint to assess your mastery of Genetics concepts.
1. Explain Mendel's Law of Segregation and provide an example of how it applies to a monohybrid cross.
Answer: The Law of Segregation states that the two alleles for each gene separate during gamete formation, so each gamete receives only one allele.
Example: In a cross between two heterozygous tall pea plants (Tt x Tt), each parent's T and t alleles segregate during meiosis. Each gamete receives either T or t (not both). The offspring genotypes are TT, Tt, Tt, and tt in a 1:2:1 ratio, demonstrating that parental alleles separated and recombined in offspring.
2. Compare and contrast DNA replication on the leading strand versus the lagging strand.
Answer:
Leading Strand:
- Synthesized continuously in the 5' to 3' direction
- Runs toward the replication fork
- Requires only one RNA primer
Lagging Strand:
- Synthesized discontinuously in short Okazaki fragments
- Runs away from the replication fork
- Requires multiple RNA primers (one for each fragment)
- Requires DNA ligase to join fragments
Similarity: Both use DNA polymerase, synthesize in the 5' to 3' direction, and produce complementary strands.
3. A woman who is a carrier for color blindness (X^C X^c) marries a man with normal color vision (X^C Y). What are the expected genotypic and phenotypic ratios of their children?
Answer:
Punnett Square:
X^C X^c
X^C X^C X^C X^C X^c
Y X^C Y X^c Y
Genotypic Ratio: 1 X^C X^C : 1 X^C X^c : 1 X^C Y : 1 X^c Y
Phenotypic Ratio:
- Daughters: All normal vision (50% carrier, 50% non-carrier)
- Sons: 50% normal vision, 50% color blind
4. Explain why DNA replication is called "semi-conservative" and describe the experiment that proved this.
Answer: DNA replication is semi-conservative because each new double helix contains one original strand and one newly synthesized strand.
Meselson-Stahl Experiment (1958):
- E. coli were grown in heavy nitrogen (15N) medium, making their DNA dense
- Bacteria were transferred to light nitrogen (14N) medium
- After one generation, DNA was intermediate density (one heavy, one light strand)
- After two generations, half the DNA was intermediate, half was light
This pattern could only occur with semi-conservative replication, disproving conservative and dispersive models.
5. In snapdragons, red flowers (RR) crossed with white flowers (rr) produce pink offspring (Rr). If two pink snapdragons are crossed, what phenotypic ratio is expected?
Answer: 1 Red : 2 Pink : 1 White
Explanation: This is incomplete dominance. Rr x Rr produces:
- RR (red) = 25%
- Rr (pink) = 50%
- rr (white) = 25%
Unlike complete dominance where the phenotypic ratio is 3:1, incomplete dominance shows a 1:2:1 phenotypic ratio matching the genotypic ratio.
6. Using a pedigree, how can you distinguish between autosomal dominant, autosomal recessive, and X-linked recessive inheritance?
Answer:
Autosomal Dominant:
- Trait appears in every generation
- Affected individuals have at least one affected parent
- Males and females equally affected
Autosomal Recessive:
- Trait can skip generations
- Two unaffected parents can have affected children
- Males and females equally affected
X-linked Recessive:
- More males affected than females
- Affected males have carrier mothers
- No father-to-son transmission
- All daughters of affected males are carriers
7. What is the function of each of the following enzymes in DNA replication: helicase, primase, DNA polymerase, and ligase?
Answer:
- Helicase: Unwinds the double helix by breaking hydrogen bonds between base pairs; creates the replication fork
- Primase: Synthesizes short RNA primers that provide a 3'-OH group for DNA polymerase to begin synthesis
- DNA Polymerase: Adds nucleotides to the 3' end of the growing strand; reads template in 3' to 5' direction and synthesizes in 5' to 3' direction; also has proofreading ability
- Ligase: Joins Okazaki fragments on the lagging strand by creating phosphodiester bonds between fragments
8. In a dihybrid cross between two pea plants heterozygous for seed color (yellow Y is dominant to green y) and seed shape (round R is dominant to wrinkled r), what fraction of offspring will be green and wrinkled?
Answer: 1/16
Explanation: YyRr x YyRr
For green and wrinkled, offspring must be yyrr (homozygous recessive for both traits)
- Probability of yy = 1/4 (from Yy x Yy)
- Probability of rr = 1/4 (from Rr x Rr)
- Probability of yyrr = 1/4 x 1/4 = 1/16
This matches the 9:3:3:1 ratio where the double recessive is 1 out of 16.
9. Explain why mutations in DNA can lead to genetic disorders, using sickle cell anemia as an example.
Answer: Mutations are changes in the DNA sequence that can alter the protein produced, potentially causing disease.
Sickle Cell Anemia Example:
- A single nucleotide substitution (A to T) in the hemoglobin gene changes the codon GAG to GTG
- This changes glutamic acid to valine at position 6 of the beta-globin chain
- The altered hemoglobin (HbS) causes red blood cells to become sickle-shaped under low oxygen conditions
- Sickle cells can block blood vessels, causing pain and organ damage
This demonstrates how a single base change can have severe phenotypic consequences.
10. Design an experiment to determine whether a tall pea plant is homozygous (TT) or heterozygous (Tt). Explain your expected results.
Answer: Perform a test cross by crossing the tall plant with a homozygous recessive short plant (tt).
Expected Results:
If the tall plant is TT:
- TT x tt produces all Tt offspring
- All offspring will be tall
- 100% tall offspring indicates homozygous dominant parent
If the tall plant is Tt:
- Tt x tt produces 50% Tt and 50% tt
- Offspring will be 50% tall, 50% short
- Appearance of short offspring indicates heterozygous parent
A test cross uses a homozygous recessive individual to reveal the unknown genotype based on offspring phenotypes.
Next Steps
- Review any questions you found challenging
- Return to earlier lessons if needed
- Move on to the next unit: Evolution
- Celebrate completing the Genetics unit!